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Supravalvular aortic stenosis

1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 1

Metaphyseal anadysplasia

2 OMIM references -
2 associated genes
10 signs/symptoms

Supravalvular aortic stenosis

Metaphyseal anadysplasia

ELN	(UniProt - OMIM)		MMP13	(UniProt - OMIM)
			MMP9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN	(0.68)	MMP9

Citations in the biomedical literature:

Supravalvular aortic stenosis		Metaphyseal anadysplasia
	Synonym(s): - SVAS - Supravalvar aortic stenosis		Synonym(s): - Maroteaux-Verloes-Stanescu syndrome - Regressive metaphyseal dysplasia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D021921		External references: 2 OMIM references - 1 MeSH reference: C537351

Supravalvular aortic stenosis		Metaphyseal anadysplasia
	Very frequent - Cardiac rhythm disorder / arrhythmia		Very frequent - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Lower limb segmental anomalies - Metaphyseal anomaly - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Rhizomelic micromelia - Short stature / dwarfism / nanism - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - X-linked recessive inheritance